Getting to know the group

[Misspoker]

 I sent out a message to all of the group members announcing myself as the new group owner.  I have read a few of the previous post and would like to request some additional information from each of the group members.  I feel it would be beneficial to all of to know some of the symptoms (issues) we deal with.  It may help in starting to get to know each other and our families.  I will start by listing some of the symptoms my daughter Sierra has and ask for each of you to do the same at your convenience.  After all, the best way to know how to support others is to have an understanding of the problems they are challenged with.

My daughter, Sierra, age 11 has had challenges including the following:

*Open-heart surgery for TOF (Tetralogy of Fallot) & VSD (Ventricular Septal Defect) - age 6 months old

*ADHD diagnosed at age 5 - currently taking Concerta 63mg & Strattera 50mg in AM & Strattera 25 mg booster at 3pm

*Anxiety - currently taking Prozac .25mg in AM for meltdowns

*VPI (Velopharyngeal insufficiency) 2 surgeries (age 4 & 6) surgery planned again after puberty

*Bi-lateral tubes twice (age 3 & 5) resulting in a 20% hearing loss in her right ear

*Bronchial Pneumonia & Scarlet Fever (age 3)

*Comprehension & learning delays (held back in 3rd grade), social anxiety, literal thinking

*Low immune system, tapered digits, mild scoliosis, scaly feet & hands

*RLS (Restless Leg Syndrome)

A few other things to know:  Sierra never meets a stranger...she will talk to anyone, anywhere, anytime if she is in the mood.  If she is not, then she likes to be left alone to do her thing, whatever it may be....watching a movie, reading a book, playing video games or the computer.  She is very loving and affectionate but sometimes has difficulty taking other peoples feeling into consideration.  She has difficulty putting her thoughts and emotions into words and gets frustrated easily.  She sees a counselor once a week to try to teach her to open up and how to better express herself appropriately.  She also attends Sylvan Learning Center twice a week to assist her with comprehension.  She is followed for her health care by a craniofacial team at Hartford Children's Medical Center and visits a phyciatrist once a month. 

These are just the most trying issues and I'm sure I will think of more later which I will continue to post in my journal.

I look forward to hearing from you all regarding your precious children or yourself and hope to be able to provide some much needed comfort and support.

[Mom_2_Boyz]

Drew is 8 yo.  He was born with a severe complete bilateral cleft lip and palate, Atrial Septal Defect (heart) as well as floppy valves, cervical-spinal defect, webbed toes, malformed toe, trigger finger as well as the characteristic 22q facial features and short stature.  He has a severe speech delay/ velopharyngeal insufficiency.  He has a history of sleep apnea. His reasoning skills are quite advanced for a child with 22q.  His IQ has been estimated to be 94 and he is currently maintaining grade level skills in a mainstream classroom.  We are interested to see what happens in higher grade levels.  He also has NO stranger awareness and is overtly social.  He has no social boundaries.  He makes friends easily, though.  He thus far has not been diagnoses with any social/emotional issues or learning disabilities.  We continue to follow him in these areas in case he needs intervention.  He is followed by a craniofacial team, cardiologist, geneticist and currently a neurosurgeon for the cervical-spinal defect.  He has had a ton of surgeries and procedures.  I will try to remember them all-

3 months old- Bilateral inguinal hernia repair and bilateral tubes
5 months old- Surgical implantation of prosethic for premaxillary repositioning
7 months old- bilateral lip repair
10 months old- surgical prosthetic removal
11 months old- soft palate repair
2 years old- tube replacement
3 1/2 years old- tonsillectomy
3 1/2 years old- emergency cauterization of tonsillectomy scabs x2
3 years 11 months- hard palate repair, soft palate revision
4 years old- dental procedures under anesthetic
6 years old- circumcision
6 years 11 months old- alveolar bone graft
7 years old- surgical splint removal post bone graft
7 years 11 months old- occipital-cervical fusion

He also had the following infections that were either pretty serious or really interesting-

3 months-18 months- strep, staph and yeast infections in his ears
3 years old- pneumonia

He has had countless x-rays, CT scans, molds of his mouth, a nasal endoscopy, suctioning of his ears, etc.  He really is a trooper! 

[BrendaChas3]

Hello Sandi,

I too would love to get some good dialogue going regarding 22q11.  I will give you my story as well

Like Sierra, my son Billy (now 3)  had TOF which was repaired at 2 months of age.  We found out Billy did have 22q11 following the surgery.  Billy's heart now functions good.

Post Op. complications led to several air way dialiations, then a tracheostomy for 8 months.

At 14 months the trach was removed and his airway repaired.

At 23 months Billy was diagnoised with cancer.  Stage 3 wilms tumor.  One kidney was removed and he underwent 7 treatments of radiation and 6 months of chemothrepary.  He is now in remission and is expected to stay that way.  (fingers crossed).

Once Billy turned 3 (3/25) he started an early education program at the town school, which the state pays for once he was accepted.

Medically, Billy is well and continues to get stronger everyday.  However, needless to say he has alot of caughting up to do.  Let me outline:

Billy is on his way to walking independenly...he is not there yet.  He walks with a walker and is making great strides with his mobility. 

Billy has a lot to say, but says very little,  his expressive language is at about a 12-15 month olds level.  He signs which is helpful but can't seem to get it into words. Billy uses a picture chart to help him along.   Billys language is my biggest worry right now!!! 

Well this is Billy in a nutshell. I have been in this group forum for a bit now but haven't had luck with people responding.  I hope something becomes of this:)

It sounds like Sierra is a talk-a-tive girl...very encouring.  When was she diagnoised with 22q11?  Dose she have an aid in school?  Dose she have any siblings?  Billy has two older sisters, Stephanie 10 and Valerie 8.  When did she meet her mildstones?

Thanks for reading my story....keep us posted! 

Brenda

[Misspoker]

Hi all and thanks to the previous poster for helping keep the group going.

Brenda- to answer some of you questions:

My labor was induced due to gestational diabetes on Friday at 4pm on my due date so I was full term.  After a long night and only dilating to two centimeters, my contractions began to squeeze her and her heart rate dropped to 50bpm.  I had an emergency C-section and she was born at 4:26pm on Saturday.  I was told she had a heart defect and was recommended to see a pediatric cardiologist in two weeks.  Sierra had her heart catheterization when she was 4 months old and that is when the FISH test was done.  It was listed in the medical report and her records that she had 22Q but the only thing I was told was that she would possibly have some delays in growth and learning.  NOBODY TOLD ME OF THE DIAGNOSIS!!!!!!  I began noticing the mentioned delays in crawling and walking but was told it probably had to do with her not being comfortable on her stomach because of her open heart surgery at 6 months old.  She did start to crawl at around 9 months and trying to walk at 1 year.  She finally was walking by herself at around 15 months.  She had a very limited vocabulary....mommy, daddy, nana, milk....by about 18 months.  I begged her to talk.  She started extending her vocab around 2 years 3 months and hasn't shut up since (but I'm not complaining)  I noticed her speech was very nasal and started to ask questions about it but nobody had any answers.  I scheduled an ENT visit and she received her first set of tubes in her ears at 2 1/2.  The ENT told me she had a very short palate and that it may grow on it's own but it never did.  At the same time I was noticing cognitive delays so I set up a developmental evaluation when she was 3 years old.  After a full morning of testing, I was told to come back later in the afternoon for the results.  They told me I didn't have to bring Sierra with me.  I went back that afternoon and was immediately introduced to a group of specialist including a genetic counselor.  Why do I need to have a genetics counselor here? I thought to myself.  The first thing I was asked was had anyone ever told me my child may be delayed in certain things.  I told them of my brief conversation with the cardiologist and then they showed me the report that was done when she had the heart cath.  I WAS SO PO'ed!!!  After getting the testing results, I was given a ton of information regarding this syndrome and what to possibly expect.  The genetics counselor was wonderful.  She explained things to my in a very comprehensive manner and the tested me for the syndrome.  I was negative.  I left there in a daze.  I got in my car and drove down the road screaming, cursing, crying, yelling, beating my steering wheel.  I was so hurt that this information wasn't shared with me so that I could have been proactive in my child's health care needs.  Why?  I still don't understand but it's in the past and there's nothing that will change it now so life goes on.  I began immediately taking all actions possible to get Sierra the appropriate help for her issues.  We saw a speech pathologist within a month and a plastic surgeon soon after.  She had her first velopharyngeal repair at almost 4 years old.  That one dehisced (came undone) within a year so she had another one at age 6.  She was in daycare so she started speech therapy then also and has continued it since she has been in school.  I held her back in 3rd grade because of her comprehension problems and other learning difficulties.  It wasn't a big deal because she was pretty much the youngest in her class.  Now she is in fifth grade and we have had may struggles since this is the first years she has had books to carry, a locker, and changing class with several different teachers.  It is all very overwhelming for her but she has made good progress.  She is in mainstream classes but goes to a support class to assist her with work not completed in the classroom and homework.  She has a paraprofessional with her in all of her class as well.  She has been suspended twice this year and I have had to go to the school and pick her up at least 5 times due to behavioral issues.  I have called 5 IEP meetings to reevaluate the behavioral plan they have set for her and it seems to be finally sinking into their heads that she is not a "normal" child.  I brought Sierra's Speech Pathologist (who is also a specialist in 22Q) to one of the meetings to help me advocate for her.  I have been to major extremes to educate her teachers on the best teaching techniques for these children and will continue to do so.  Every day has it's challenges that's for sure but we just keep on trying.

It sounds like you all have had your share of obstacles also.  I hope I have answered some of your questions.  Please feel free to ask anything you want.  I am very open about our ordeals and hope that others will be too.  It's the best way for us to learn.

Keep posting and advocate, advocate, advocate for your child!

Best wishes.

[Mom_2_Boyz]

Brenda-

It looks like our boys have the same birthday!  How ironic is that?

[Mom_2_Boyz]

I find it interesting that you both found out so soon after birth.  I had an amniocentisis at about 24 weeks and it came back "normal".  THey took blood from Drew and did testing after he was born- also "normal".  For the next 5 years, health professionals repeatedly asked me what syndrome he had.  I had no answer.  He had multiple midline defects.  He had developmental and speech delays.  Finally, we were referred back to genetics.  After the run-around for a year (trying to get permission from insurance to cover the tests, them misplacing his chart and therefore not making the request, no one returning my calls, emails and finally a paper letter by USPS) we were finally seen.  The geneticist said he had a couple ideas of what Drew could have.  They ran a CHG micro array.  It was then that they found the 22q.  Drew has an atypical presentation with the cleft lip and a very mild heart defect.  I am just glad that, even though it ended up taking us 6 1/2 years, we finally know what causes these issues and how to go about helping him- what to look for next.

[BrendaChas3]

Hi Mom of 2 Boyz & Sandi, etc....

Thank you for sharing your story about Drew.  Wow what a Tropper you both are! To respond to your question about me learning of 22q11 early on.  The day we were sent to see a cardilogist for our newborn son Billy (4 days old)  A geneticis person introduced herself to us.  She basically told us about her job as a geneticis and asked us if we would be interested in doing some genetic testing on our son.  She told us that typically newborns with TOF  have a genetic disorder know as 22q11.  Some blood was taken during Billys heart operation and it was shortly after that we found out about 22q11.  My question to you.  Dose Drew have 22q or 22q11? I think there is a small difference.  I'm sorry it took you so long to learn about Drew.  What a runaround you had.  

Can you tell me more about Drews speech.  He is 8 now, right?  How has his journey been.  I would imagine you had early intervention, etc.

Also I wanted to mention to both you and Sandi, Billy has Strabismus (sp).  It is when the eyes turn out wards , but they do come back together ok.  He will need eye surgery between 4 and 5 to strengten the muscle.  Do your kids have any complications with their eyes. 

Thank you Sandi for your e-mail, I will respond soon.....

Take Good Care of you and your family........ Brenda

[BrendaChas3]

That is Ironic and Awesome too!  March 25th....A Good Day!  :)

Brenda

[Mom_2_Boyz]

Drew's actual deletion is 22q11.2.

As for vision, Drew has amblyopia.  One eye has near perfect vision.  The other eye (the "lazy" eye) needs correction.

Drew's receptive speech is developmentally appropriate.  His expressive speech is appropriate for content- he can construct sentences, he answers questions appropriately, expresses needs and wants, etc.  His problem is physically being able to atriculate sounds.  His speech is very difficult to understand.  He was unintelligible until he was 6 yo.  He has been in early intervention and/or private speech therapy since he was 18 months old.  He has spent several years in both programs at school and private speech therapy.  A recent nasal endoscopy revealed that Drew has basically no palatal movement.  This, of course, contributes to the articulation problems he already has.  Right now, we are not in private speech.  They feel there isn't anything they can do for him that he hasn't done 100 times over and it is just a matter of practice.  They helped us wrtie a home program.  I have yet to start that.  I was going to have a teenager in our area come in and do it with him, but between his Occipital-cervical fusion and our 7 month old on a feeding tube- yeah, just hasn't happened.

[Misspoker]

Sierra's eyes had a tendency to cross so she began wearing glassed at 4 years old.  She is getting to the point where she is ready to get rid of them.  She wants to try contacts but i told her she has to wait until she is a little more responsible, maybe 14 or 15.  The puberty stage is coming on strong and she is becoming more conscious of her appearance.   I try to keep her reassured that she is beautiful inside and out so she maintains self-confidence but she knows she is different so sometime it is hard for her to see herself that way.

She is my only child but her father has two sons who are 19 and 23.  No one else has been tested that I am aware of so I am not certain if this is a new mutation.

Thank you all for the input and info....have a good upcoming week!

[jackierene82]

Hi Everyone,

My son, Ethan, is almost 3 years old. My husband and I found out that he had a heart defect when I was about six months pregnant. The doctors did the FISH test shortly after he was born. When he was less than a month old he had his first heart surgery for repair of Tetrallogy of Fallot. A month after that he had a shunt put in his pulmonary artery. For the first 3 months, he was in Peds ICU at University of Michigan Children's Mott Hospital. It was extremely difficult. He was on a venitlator and several times we almost lost him. After he recovered we were able to go home. He was and still is on 24hour oxygen, he eventually got a G-tube because he was not gaining weight. He has had pneumonia so many times I cannot even count. He cannot swallow any water or liquids or he will aspirate and get pneumonia. Last year he had another shunt put in.

He is not talking or walking. He receives physical, occupational, and speech therapies. He has hearing aids because his ear cannals are so small that the wax just sits in his ears. He is on calcium for the deficiency. He will eventually need glasses and braces for his teeth. He also has braces that he wears on his ankles to help him learn how to walk. We have been really lucky the past year. He hasn't been sick and we have been able to ween his oxygen levels down. Before that he was extremely sick and in and out of the hospital almost every week. What has kept him out is us finding out that he aspirates with the liquids. He doesn't eat very much and is extremely small.

We are just so thankful that we have gone such a long time without him being sick and are really looking forward to spending the summer outdoors and just trying to live a somewhat normal life.